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000286090 1001_ $$0P:(DE-HGF)0$$aLoureiro, Joana R$$b0$$eFirst author
000286090 245__ $$aThe insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
000286090 260__ $$aMaryland Heights, MO$$bCell Press$$c2026
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000286090 520__ $$aAlu elements are evolutionarily very old primate-specific interspersed repeat elements that constitute ∼11% of the human genome. They are a source of short tandem repeats (STRs), which often expand in size and cause inherited neuromuscular and neurodegenerative disorders. How expanded STR insertion mutations within Alu STRs culminate in disease remains unknown. Here, we report an Alu STR located in an intron of DAB1 that functions as a neurodevelopmental enhancer. We demonstrate that an ATTTC repeat insertion in this DAB1 Alu STR, known to cause spinocerebellar ataxia type 37 (SCA37), hyperactivates a neurodevelopmental DAB1 enhancer. Importantly, we show that neurons derived from SCA37 subjects have higher levels of DAB1 expression and that DAB1 overexpression causes abnormal axonal pathfinding in vivo. Overall, these results establish that neuronal dysregulation of a developmental DAB1 Alu STR enhancer contributes to SCA37 pathogenesis, an unexplored mechanism likely acting in many Alu STR diseases, potentially reshaping the therapeutic landscape.
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000286090 650_7 $$2Other$$a4C-seq
000286090 650_7 $$2Other$$aCAGE
000286090 650_7 $$2Other$$aCP: genomics
000286090 650_7 $$2Other$$aCP: neuroscience
000286090 650_7 $$2Other$$aDAB1 primate-specific Alu element
000286090 650_7 $$2Other$$aSCA37
000286090 650_7 $$2Other$$aSTR
000286090 650_7 $$2Other$$aaxonal pathfinding
000286090 650_7 $$2Other$$acap analysis of gene expression
000286090 650_7 $$2Other$$acerebellar transcriptional enhancer
000286090 650_7 $$2Other$$acircularized chromosome conformation capture sequencing
000286090 650_7 $$2Other$$aiPSN
000286090 650_7 $$2Other$$aneurodegenerative disease
000286090 650_7 $$2Other$$apentanucleotide repeat expansion
000286090 650_7 $$2Other$$ashort tandem repeat
000286090 650_7 $$2Other$$aspinocerebellar ataxia type 37
000286090 7001_ $$aCastro, Ana F$$b1
000286090 7001_ $$aFigueiredo, Ana S$$b2
000286090 7001_ $$aEufrásio, Ana$$b3
000286090 7001_ $$0P:(DE-2719)2811729$$aDhingra, Ashutosh$$b4$$udzne
000286090 7001_ $$aGalhardo, Mafalda$$b5
000286090 7001_ $$aMarcelino, Hugo$$b6
000286090 7001_ $$aRodrigues, Catarina C$$b7
000286090 7001_ $$aSampaio, Paula$$b8
000286090 7001_ $$aAzevedo, Maria$$b9
000286090 7001_ $$aSousa, Mafalda$$b10
000286090 7001_ $$aDória, Sofia$$b11
000286090 7001_ $$0P:(DE-2719)2810718$$aRizzu, Patrizia$$b12
000286090 7001_ $$0P:(DE-2719)2810728$$aHeutink, Peter$$b13
000286090 7001_ $$aBessa, José$$b14
000286090 7001_ $$aSilveira, Isabel$$b15
000286090 773__ $$0PERI:(DE-600)2649101-1$$a10.1016/j.celrep.2026.117146$$gVol. 45, no. 4, p. 117146 -$$n4$$p117146$$tCell reports$$v45$$x2211-1247$$y2026
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